Author

Andrea Dardis

Ospedale Santa Maria della Misericordia di UdineORCID 0000-0001-7024-8181Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrés D. KleiniD· 1 shared Benjamín SzenfeldiD· 1 shared Bruno BembiiD· 1 shared Cathrine K. FogiD· 1 shared Claus Bornæs· 1 shared Emanuele BurattiiD· 1 shared Erika Malini· 1 shared Francisco A. CubillosiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrés D. KleinORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineFEBS LettersPeer-reviewedJun 12, 2025

Genomic Modifiers of Neurological Resilience in a Niemann-Pick C family

Macarena Las Heras, Benjamín Szenfeld, Valeria Olguín…·Andrés D. Klein

The paper identifies genomic modifiers of neurological resilience in Niemann-Pick C disease by analyzing exomes from a family with diverse phenotypes and validates findings in yeast models.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

NeurosciencebioRxivPreprintMar 15, 2018

Arimoclomol as a potential therapy for neuronopathic Gaucher Disease

Cathrine K. Fog, Paola Zago, Erika Malini…·Thomas Kirkegaard

This study shows arimoclomol improves GCase function in GD models by enhancing its folding, maturation, activity, and localization.

1 citation

humanexperimental assay

𝕏 PostBluesky